RGD:28875348 Rat Genome Database

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Variant: RGD:28875348 -  Homo sapiens

RGD ID: 28875348
RS ID: rs571705929
ClinVar ID: CV874113
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HCN4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 73,614,055
GRCh38 15 73,321,714
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005477.3:c.*767C>T
NG_009063.1:g.52551C>T
NC_000015.10:g.73321714G>A
NC_000015.9:g.73614055G>A
More... 		01/12/2018 3 prime utr variant uncertain significance ATRIAL FIBRILLATION WITH BRADYARRHYTHMIA; SICK SINUS SYNDROME 2; SICK SINUS SYNDROME 2 WITH OR WITHOUT CARDIAC NONCOMPACTION AND/OR ASCENDING AORTA DILATION; SINUS BRADYCARDIA SYNDROME, FAMILIAL, AUTOSOMAL DOMINANT; SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HCN4
Accession:XM_011521148
Location:3UTRS;EXON

Gene Symbol:HCN4
Accession:NM_005477
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001115861 CLINVAR
dbSNP (RS) rs571705929 CLINVAR
MedGen C1834144 CLINVAR
NCBI Gene HCN4 CLINVAR
OMIM 163800 CLINVAR
  605206 CLINVAR